Canonical Allele Identifier: CA2184878253

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208359G= , CM000677.2:g.68208359G=	GRCh38
NC_000015.9:g.68500697G= , CM000677.1:g.68500697G=	GRCh37
NC_000015.8:g.66287751G=	NCBI36
NG_008764.2:g.53853C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.717C= MANE Select	ENSP00000249806.5:p.Phe239=
ENST00000562767.2:c.84-10731C=	ENSP00000456336.1:n.84-10731C=
ENST00000565471.6:c.258C=	ENSP00000457384.1:p.Phe86=
ENST00000635747.1:c.*620C=	ENSP00000490627.1:n.*620C=
ENST00000636212.1:c.*387C=	ENSP00000489851.1:n.*387C=
ENST00000636674.1:n.1819C=
ENST00000636964.1:n.2245C=
ENST00000637054.1:c.198+10177C=	ENSP00000490807.1:n.198+10177C=
ENST00000637329.1:c.686C=
ENST00000637450.1:c.*371C=	ENSP00000490204.1:n.*371C=
ENST00000637494.1:c.429C=	ENSP00000490057.1:p.Phe143=
ENST00000637667.1:c.618C=	ENSP00000489843.1:p.Phe206=
ENST00000637823.1:c.542C=
ENST00000637888.1:c.198+10177C=	ENSP00000490546.1:n.198+10177C=
ENST00000638076.1:c.*320C=	ENSP00000490373.1:n.*320C=
ENST00000638144.1:n.360C=
ENST00000646164.1:c.39-8678C=
ENST00000249806.9:c.717C=	ENSP00000249806.5:p.Phe239=
ENST00000538696.5:c.813C=	ENSP00000445770.1:p.Phe271=
ENST00000562767.1:c.84-10731C=	ENSP00000456336.1:n.84-10731C=
ENST00000564752.1:c.*101C=	ENSP00000457822.1:n.*101C=
ENST00000565471.5:c.258C=	ENSP00000457384.1:p.Phe86=
ENST00000566347.5:c.528C=	ENSP00000457783.1:p.Phe176=
ENST00000567060.5:c.*115C=	ENSP00000454818.1:n.*115C=
NM_017882.2:c.717C=	NP_060352.1:p.Phe239=
NM_017882.3:c.717C= MANE Select	NP_060352.1:p.Phe239=